The mammary gland and the homeobox gene Otx1

Ilaria S. Pagani, Alessandro Terrinoni, Laura Marenghi, Ileana Zucchi, Anna M. Chiaravalli, Valeria Serra, Francesca Rovera, Silvia Sirchia, Gianlorenzo Dionigi, Monica Mozzo, Annalisa Frattini, Alberta Ferrari, Carlo Capella, Francesco Pasquali, Francesco L. Curto, Alberto Albertini, Gerry Melino, Giovanni Porta

Research output: Contribution to journalArticlepeer-review


The mammary gland, the unique organ that primarily form at puberty, is an ideal model to study the functions of homeobox (HB) genes in both development and tumorigenesis. HB genes comprise a large family of developmental regulators that have a critical role in cell growth and differentiation. In the normal mammary gland, homeobox genes are involved in ductal formation, epithelial branching, and lobulo-alveolar development by regulating epithelial proliferation and differentiation. The HB genes are controlled in a spatial and temporal manner in both stromal and epithelial cells. They are coordinately regulated by hormones and extracellular matrix, suggesting that many signaling pathways are involved in homeobox gene functions. When homeobox genes are misexpressed in animal models, different defects are displayed in mammary gland development. Aberrant expression of homeobox genes, overexpressed or downregulated, is found in primary carcinomas and in breast cancer. The Otx1 HB gene is a classic regulatory of nervous system development during embryogenesis. Postnatally Otx1 is transcribed in the anterior pituitary gland, where activates transcription of the pituitary hormones, and plays a role in hematopoiesis, enhancing pluripotent cells, and erythroid differentiation. Otx1 can still be detected in mature cells of the erythroid and megacaryocytic lineage. During cyclical development of mammary gland, the Otx1 gene is overexpressed in lactation, confirming a role of this transcription factor in cell differentiation. Recent studies report that Otx1 is overexpressed in breast cancer. Otx1 is expressed during embryogenesis, and it is expressed again during carcinogenesis, implying its possible function in differentiation of neoplastic cells.

Original languageEnglish
JournalBreast Journal
Issue numberSUPPL. 1
Publication statusPublished - Sept 2010


  • breast cancer
  • homeobox genes
  • lactation
  • mammary gland
  • Otx1

ASJC Scopus subject areas

  • Internal Medicine
  • Oncology
  • Surgery


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